Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):571-576. doi: 10.3760/cma.j.cn511374-20230411-00201.
ABSTRACT
OBJECTIVE: To explore the clinical features and genetic etiology of a child with Baraitser-Winter syndrome (BWS).
METHODS: A BWS child who had sought medical attention at the Linyi People’s Hospital on April 8, 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples were obtained from the child and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.
RESULTS: The child, a 5-year-and-6-month-old male, had typical clinical features of BWS including congenital non-myogenic ptosis, arched eyebrows, wide philtrum, and pointed chin. Neurological symptoms included microcephaly, developmental delay, epilepsy, and deafness. Cranial MRI revealed enlarged frontal lobes, decreased white matter, and hydrocephalus. WES has identified a heterozygous c.430G>A (p.Asn144Tyr) missense variant in the ACTG1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3_Moderate+PP4).
CONCLUSION: The heterozygous c.430G>A (p.Asn144Tyr) missense variant of the ACTG1 gene probably underlay the pathogenesis of BWS in this child. Above finding has enriched the mutation spectrum of BWS-related genes and provided a basis for clinical diagnosis and genetic counseling.
PMID:38684303 | DOI:10.3760/cma.j.cn511374-20230411-00201
